Incidental Mutation 'R0422:Cdkl2'
ID 37110
Institutional Source Beutler Lab
Gene Symbol Cdkl2
Ensembl Gene ENSMUSG00000029403
Gene Name cyclin dependent kinase like 2
Synonyms KKIAMRE, 5330436L21Rik, Kkm
MMRRC Submission 038624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0422 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 92153933-92191742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92168171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 341 (D341G)
Ref Sequence ENSEMBL: ENSMUSP00000108768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069937] [ENSMUST00000086978] [ENSMUST00000113140] [ENSMUST00000113143]
AlphaFold Q9QUK0
Predicted Effect probably benign
Transcript: ENSMUST00000069937
AA Change: D341G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: D341G

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086978
AA Change: D341G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: D341G

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113140
AA Change: D341G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: D341G

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113143
AA Change: D341G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: D341G

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136037
Predicted Effect probably benign
Transcript: ENSMUST00000201357
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,372,963 (GRCm39) Y155* probably null Het
Adamts16 A G 13: 70,887,074 (GRCm39) C937R probably damaging Het
Akna T C 4: 63,310,391 (GRCm39) D451G probably damaging Het
Alox12 A T 11: 70,145,384 (GRCm39) V63E probably damaging Het
Ap3b1 T C 13: 94,598,968 (GRCm39) I514T probably damaging Het
Arhgap23 T C 11: 97,354,478 (GRCm39) M286T probably damaging Het
Clip2 T C 5: 134,526,967 (GRCm39) D813G probably benign Het
Cntnap3 A G 13: 64,905,099 (GRCm39) V894A probably damaging Het
Coro2b T A 9: 62,335,259 (GRCm39) Y304F probably benign Het
Dclre1a T A 19: 56,532,567 (GRCm39) K676* probably null Het
Dmxl2 A G 9: 54,307,224 (GRCm39) probably null Het
Dpep3 A G 8: 106,702,750 (GRCm39) probably null Het
Efna5 C T 17: 62,914,414 (GRCm39) A177T probably benign Het
Fabp1 G A 6: 71,180,077 (GRCm39) V83I possibly damaging Het
H2-DMa G T 17: 34,356,921 (GRCm39) G140C probably damaging Het
Hectd4 T A 5: 121,481,145 (GRCm39) probably null Het
Hyou1 T A 9: 44,300,539 (GRCm39) N869K probably damaging Het
Ing1 G A 8: 11,611,933 (GRCm39) V124I probably damaging Het
Kalrn T A 16: 34,134,643 (GRCm39) I380F probably damaging Het
Kcnh1 A G 1: 192,019,888 (GRCm39) I378V probably benign Het
Kmt2c A G 5: 25,520,662 (GRCm39) V1816A probably benign Het
Matn2 G A 15: 34,435,917 (GRCm39) probably null Het
Naip2 C T 13: 100,297,621 (GRCm39) S805N probably benign Het
Napsa A C 7: 44,234,530 (GRCm39) Q254P probably damaging Het
Nat10 G T 2: 103,557,074 (GRCm39) S860* probably null Het
Nipbl T C 15: 8,381,112 (GRCm39) D560G probably benign Het
Nr3c2 A G 8: 77,912,596 (GRCm39) M736V probably benign Het
Or4k44 A T 2: 111,368,328 (GRCm39) F102Y probably damaging Het
Or7e174 A T 9: 20,012,744 (GRCm39) R230* probably null Het
Or8u8 A T 2: 86,011,566 (GRCm39) D296E probably benign Het
Palm3 A G 8: 84,755,492 (GRCm39) S335G possibly damaging Het
Panx1 G T 9: 14,919,112 (GRCm39) S249* probably null Het
Parvb A G 15: 84,179,812 (GRCm39) T231A probably benign Het
Pcdhb11 G T 18: 37,554,923 (GRCm39) L84F probably damaging Het
Pi4k2b T C 5: 52,925,096 (GRCm39) *447Q probably null Het
Ppp1r1a A G 15: 103,440,783 (GRCm39) S125P probably benign Het
Prss1 T A 6: 41,440,246 (GRCm39) D194E probably damaging Het
Rnf216 A T 5: 143,076,125 (GRCm39) F253Y probably benign Het
Rnf216 A T 5: 143,001,409 (GRCm39) C772* probably null Het
Rsf1 A T 7: 97,330,024 (GRCm39) E1183D probably benign Het
Rusc1 T C 3: 88,994,132 (GRCm39) T958A probably benign Het
Rxfp1 A G 3: 79,558,038 (GRCm39) M480T probably benign Het
Slc22a16 T A 10: 40,467,886 (GRCm39) V473E probably damaging Het
Slc26a3 A G 12: 31,515,848 (GRCm39) T583A possibly damaging Het
Slc7a15 T C 12: 8,584,400 (GRCm39) T117A probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Slitrk6 T A 14: 110,989,725 (GRCm39) probably benign Het
Spata31g1 T C 4: 42,972,199 (GRCm39) S511P possibly damaging Het
Spata7 A G 12: 98,624,524 (GRCm39) Y110C probably damaging Het
Supt16 T A 14: 52,421,453 (GRCm39) I31F probably benign Het
Taar7a T C 10: 23,869,172 (GRCm39) T70A probably benign Het
Top2a A G 11: 98,900,679 (GRCm39) F594L probably damaging Het
Unc13d C T 11: 115,960,846 (GRCm39) probably null Het
Unc80 T G 1: 66,522,497 (GRCm39) V233G probably damaging Het
Wdr91 A T 6: 34,857,781 (GRCm39) D735E probably damaging Het
Zzef1 A G 11: 72,756,917 (GRCm39) T1141A possibly damaging Het
Other mutations in Cdkl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Cdkl2 APN 5 92,165,236 (GRCm39) splice site probably null
IGL02481:Cdkl2 APN 5 92,185,130 (GRCm39) missense probably damaging 1.00
IGL02943:Cdkl2 APN 5 92,185,103 (GRCm39) missense possibly damaging 0.81
IGL03187:Cdkl2 APN 5 92,165,239 (GRCm39) critical splice donor site probably null
IGL03251:Cdkl2 APN 5 92,181,585 (GRCm39) missense probably damaging 1.00
R0616:Cdkl2 UTSW 5 92,156,863 (GRCm39) missense probably benign 0.12
R0764:Cdkl2 UTSW 5 92,168,136 (GRCm39) missense probably benign 0.00
R1023:Cdkl2 UTSW 5 92,187,145 (GRCm39) missense possibly damaging 0.58
R2338:Cdkl2 UTSW 5 92,181,538 (GRCm39) missense possibly damaging 0.92
R2497:Cdkl2 UTSW 5 92,156,857 (GRCm39) missense probably benign 0.44
R3926:Cdkl2 UTSW 5 92,180,998 (GRCm39) missense possibly damaging 0.62
R4444:Cdkl2 UTSW 5 92,168,168 (GRCm39) missense probably benign 0.10
R4445:Cdkl2 UTSW 5 92,168,168 (GRCm39) missense probably benign 0.10
R4446:Cdkl2 UTSW 5 92,168,168 (GRCm39) missense probably benign 0.10
R4647:Cdkl2 UTSW 5 92,165,072 (GRCm39) missense probably damaging 0.99
R4664:Cdkl2 UTSW 5 92,185,124 (GRCm39) missense probably damaging 0.99
R5478:Cdkl2 UTSW 5 92,187,108 (GRCm39) nonsense probably null
R5636:Cdkl2 UTSW 5 92,181,601 (GRCm39) missense probably benign 0.01
R6446:Cdkl2 UTSW 5 92,181,076 (GRCm39) missense probably damaging 1.00
R7051:Cdkl2 UTSW 5 92,181,084 (GRCm39) missense probably damaging 0.99
R7096:Cdkl2 UTSW 5 92,181,043 (GRCm39) nonsense probably null
R7388:Cdkl2 UTSW 5 92,167,318 (GRCm39) missense probably benign 0.01
R8871:Cdkl2 UTSW 5 92,164,989 (GRCm39) missense possibly damaging 0.67
R8993:Cdkl2 UTSW 5 92,170,010 (GRCm39) missense probably damaging 0.99
R9323:Cdkl2 UTSW 5 92,168,107 (GRCm39) missense probably benign 0.23
R9768:Cdkl2 UTSW 5 92,165,244 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCAATCTCTGAGGCTGGTGGAAG -3'
(R):5'- TCCACACTGTCAAGTGAACCAAAGG -3'

Sequencing Primer
(F):5'- TGGAAGCCAAGCCTTTGTG -3'
(R):5'- cctgtctgtctgtctgtctg -3'
Posted On 2013-05-09